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Congenital generalised lipodystrophy type 2.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-13 DOI: 10.1136/bcr-2024-264477
Vykuntaraju K Gowda, Amaresh Roy, Varunvenkat M Srinivasan, Prahalad Kumar, Viveka Santhosh Reddy Challa
{"title":"Congenital generalised lipodystrophy type 2.","authors":"Vykuntaraju K Gowda, Amaresh Roy, Varunvenkat M Srinivasan, Prahalad Kumar, Viveka Santhosh Reddy Challa","doi":"10.1136/bcr-2024-264477","DOIUrl":"https://doi.org/10.1136/bcr-2024-264477","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Desmoid fibromatosis arising from caecum: an overview of the challenges in diagnosis and treatment.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-13 DOI: 10.1136/bcr-2024-263030
Micheal C Luca, Amir Ali Damadi, Binit Katuwal
{"title":"Desmoid fibromatosis arising from caecum: an overview of the challenges in diagnosis and treatment.","authors":"Micheal C Luca, Amir Ali Damadi, Binit Katuwal","doi":"10.1136/bcr-2024-263030","DOIUrl":"10.1136/bcr-2024-263030","url":null,"abstract":"<p><p>Desmoid fibromatosis is a rare subtype of soft tissue neoplasms known for its locally aggressive behaviour and fibrotic consistency. While these tumours can arise in various anatomical sites, their occurrence within the colon is exceptionally rare and poses diagnostic and therapeutic challenges. We present a case of a female patient in her 30s with no significant medical history who presented with vague gastrointestinal and urinary symptoms. Imaging studies revealed a sizeable abdominal mass, initially raising uncertainty regarding its origin. Subsequent exploratory laparotomy revealed a desmoid fibromatosis involving the muscularis propria of the caecum, prompting a right hemicolectomy. Histopathological analysis confirmed the diagnosis, and the patient underwent a successful resection with negative margins. This case underscores the importance of individualised treatment plans and long-term surveillance in managing colonic desmoid tumours for optimal outcomes and disease-free survival.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11831054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Malignant pleural mesothelioma.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-13 DOI: 10.1136/bcr-2024-263562
Pragati Rao D, Sruthy Vijayan, Shashidhar S Vananjakar, Prasanna Kumar T
{"title":"Malignant pleural mesothelioma.","authors":"Pragati Rao D, Sruthy Vijayan, Shashidhar S Vananjakar, Prasanna Kumar T","doi":"10.1136/bcr-2024-263562","DOIUrl":"https://doi.org/10.1136/bcr-2024-263562","url":null,"abstract":"<p><p>Malignant pleural mesothelioma is a rare and aggressive tumour of the pleura, commonly linked to asbestos exposure. However, its diagnosis is challenging, especially without known exposure. We present the case of a woman in her early 70s with no history of asbestos exposure, who presented with progressive breathlessness and left-sided chest pain. Radiological assessment revealed a large pleural effusion and nodular pleural thickening. Malignant pleural mesothelioma was confirmed through histopathological analysis of biopsies obtained via medical thoracoscopy. The patient was initiated on a palliative chemotherapy regimen, underwent talc slurry pleurodesis for recurrent effusion, and is currently under follow-up. This case emphasises the importance of a high index of suspicion for malignant pleural mesothelioma in patients with unexplained pleural effusion, even in the absence of typical risk factors, and the need for a timely diagnosis due to the disease's dismal prognosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and surgical insights into parameatal urethral cyst.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-13 DOI: 10.1136/bcr-2024-263319
Ganesh Laxman Krishnamurthy, Ankit Agarwal, Vijay Gunashekar, Arun Chawla
{"title":"Clinical and surgical insights into parameatal urethral cyst.","authors":"Ganesh Laxman Krishnamurthy, Ankit Agarwal, Vijay Gunashekar, Arun Chawla","doi":"10.1136/bcr-2024-263319","DOIUrl":"https://doi.org/10.1136/bcr-2024-263319","url":null,"abstract":"<p><p>Parameatal urethral cysts are rare, benign congenital abnormalities of the urethra, usually presenting in early childhood. Although often asymptomatic, they may sometimes result in urinary flow disturbances, difficulties during sexual intercourse or cosmetic concerns. Here, we present two cases of parameatal urethral cysts in males, diagnosed relatively later in life: one in a young adult in his early 20s and the other in a mid-adolescent. The young adult sought treatment for urine splaying and challenges with sexual intercourse, whereas the adolescent was primarily concerned about the cosmetic appearance of the cyst. Both cases were treated with surgical excision, considering the optimal approach according to the literature. Histopathological examination revealed that the cyst walls were lined with stratified squamous epithelium in both instances. Follow-up showed excellent cosmetic results, with no recurrence or voiding difficulties.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Paediatric gluten ataxia: a rare neurological presentation of gluten sensitivity in a toddler.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-13 DOI: 10.1136/bcr-2024-262288
Ahsan Rasool, Claire Marie Power
{"title":"Paediatric gluten ataxia: a rare neurological presentation of gluten sensitivity in a toddler.","authors":"Ahsan Rasool, Claire Marie Power","doi":"10.1136/bcr-2024-262288","DOIUrl":"10.1136/bcr-2024-262288","url":null,"abstract":"<p><p>A toddler presented with a 6 week history of progressively worsening ataxia, weight loss and loose stool. There was no developmental regression, history of fever or foreign travel. Extensive investigation, including cerebrospinal fluid studies and neuroimaging, were inconclusive. In coeliac screen, the endomysial antibodies were positive with above tenfold elevation of IgA TTG from normal limit, making the diagnosis of coeliac disease (CD). The association of CD with neurological symptoms in our case led to the clinical impression of gluten ataxia. She was started on gluten free diet and had complete symptom resolution in over 4 weeks' time since the start of gluten-free diet. Although common in adults, it has not been reported in toddlers, expanding the differential diagnosis of ataxia.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11831055/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute dystonia following the two-injection start of aripiprazole once-monthly.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-13 DOI: 10.1136/bcr-2024-263842
Alexander Levit, Ric M Procyshyn, Kamyar Keramatian
{"title":"Acute dystonia following the two-injection start of aripiprazole once-monthly.","authors":"Alexander Levit, Ric M Procyshyn, Kamyar Keramatian","doi":"10.1136/bcr-2024-263842","DOIUrl":"https://doi.org/10.1136/bcr-2024-263842","url":null,"abstract":"<p><p>We present a case of an acute dystonic reaction (ADR) following the two-injection start of aripiprazole once-monthly (AOM) in a patient who previously tolerated equivalent doses of oral aripiprazole (20 mg daily). The ADR occurred two times within 3 weeks of the two-injection start and was effectively treated with benztropine each time. The patient tolerated maintenance treatments of AOM 400 mg without recurrent ADR. A key risk factor in this patient was a prior ADR to a different antipsychotic. We also speculate on the potential roles of strenuous physical activity and infection in increasing the sensitivity to the two-injection initiation regimen compared with the conventional one-injection start. The two-injection start of AOM has been approved by regulatory bodies on the basis of population pharmacokinetic modelling. Our case may, therefore, identify a new safety concern with this alternative initiation option that was not captured in the modelling.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Arcuate line hernia repair: a laparoscopic technique with transfascial primary repair and mesh reinforcement.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-13 DOI: 10.1136/bcr-2024-263906
Abhishet Varama, Suppa-Ut Pungpapong, Sopark Manasnayakorn, Voranaddha Vacharathit
{"title":"Arcuate line hernia repair: a laparoscopic technique with transfascial primary repair and mesh reinforcement.","authors":"Abhishet Varama, Suppa-Ut Pungpapong, Sopark Manasnayakorn, Voranaddha Vacharathit","doi":"10.1136/bcr-2024-263906","DOIUrl":"https://doi.org/10.1136/bcr-2024-263906","url":null,"abstract":"<p><p>Arcuate line hernias (ALHs) are rare intraparietal hernias, with a prevalence ranging from 1.62% to 2%. These hernias occur at the arcuate line (AL)-a significant anatomical transition zone where the posterior lamella of the internal oblique and transversus abdominis aponeurosis shift from contributing fibres to the posterior sheath to the anterior sheath. Uniquely, ALHs do not present with a palpable defect. Although typically asymptomatic, incarceration and strangulation have been reported. Presently, there is no consensus regarding the optimal repair technique for ALHs, which pose a specific challenge in surgical repair due to the absence of a fascial edge to suture to below the AL, as commonly performed in other abdominal hernia repairs. We report an ALH repaired laparoscopically with transfascial sutures and intraperitoneal onlay mesh. Preoperative findings, imaging, anatomical considerations, and tailored surgical approach are discussed, complemented by an extensive review of the literature.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intramural pregnancy after in vitro fertilisation.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-13 DOI: 10.1136/bcr-2024-263146
Jennifer K Y Ko, Ming Chak Law, Mandy M Y Chu, Ernest H Y Ng
{"title":"Intramural pregnancy after in vitro fertilisation.","authors":"Jennifer K Y Ko, Ming Chak Law, Mandy M Y Chu, Ernest H Y Ng","doi":"10.1136/bcr-2024-263146","DOIUrl":"https://doi.org/10.1136/bcr-2024-263146","url":null,"abstract":"<p><p>We present two cases of suspected intramural pregnancy after failed intervention for 'miscarriage' of an initially presumed normally sited pregnancy. The diagnosis of intramural pregnancy was assumed retrospectively after taking into consideration the whole clinical picture. These cases illustrate the difficulty in early diagnosis and further confirmation, and the need for a high index of suspicion in case of failed standard management for miscarriage.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thyroid storm: hyperemesis and second trimester miscarriage.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-12 DOI: 10.1136/bcr-2024-263035
Melissa Alim, Zhen Quan Teo, Rosemary Lovell
{"title":"Thyroid storm: hyperemesis and second trimester miscarriage.","authors":"Melissa Alim, Zhen Quan Teo, Rosemary Lovell","doi":"10.1136/bcr-2024-263035","DOIUrl":"https://doi.org/10.1136/bcr-2024-263035","url":null,"abstract":"<p><p>Thyroid storm is a rare and life-threatening endocrine emergency. This complication is typically seen in women with a history of thyroid disorders triggered by a stressor such as surgery, trauma or severe illness. In pregnancy, there is significant fetal morbidity including preterm birth or fetal death. We present a case of thyroid storm in the second trimester precipitated by hyperemesis gravidarum and gestational transient thyrotoxicosis which was complicated by maternal collapse, miscarriage and cardiomyopathy.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143405242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Painful chest wall swelling: First rib osteochondroma in a paediatric patient with Hereditary Multiple Exostoses.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-12 DOI: 10.1136/bcr-2024-262619
Suraj Pai, K Ramachandra Kamath, Samaksh Dhawan, Saiprasad Sarvothama Baliga
{"title":"Painful chest wall swelling: First rib osteochondroma in a paediatric patient with Hereditary Multiple Exostoses.","authors":"Suraj Pai, K Ramachandra Kamath, Samaksh Dhawan, Saiprasad Sarvothama Baliga","doi":"10.1136/bcr-2024-262619","DOIUrl":"https://doi.org/10.1136/bcr-2024-262619","url":null,"abstract":"<p><p>Hereditary multiple exostoses (HME) is an autosomal dominant condition with variable penetrance. As per Dr Waller's audit of the Leeds regional bone tumour registry, 90 primary bone tumours of the thoracic skeleton were recorded, accounting for 4.5% of all cases in the registry. Osteochondromas represent 8% of rib tumours and approximately 50% of benign rib tumours. The patient presented with a chronic swelling in the right supraclavicular region with restricted shoulder motion and was diagnosed with osteochondroma of the first rib after evaluation. Surgical management by excision of the first rib tumour was done. Excision of the osteochondroma in the concerned case showed drastic symptomatic relief with complete recovery in range of motion. The hypothesis regarding common association of rib osteochondroma with a syndromic condition, namely HME, was also found to be fitting in the given case.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143405059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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